Epithelial recurrent erosion dystrophy: genes and variants
Epithelial recurrent erosion dystrophy is linked to 1 analyzed protein (COL17A1). 1 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Epithelial recurrent erosion dystrophy
COL17A1: Collagen alpha-1(XVII) chain
It anchors basal keratinocytes to the basement membrane through hemidesmosomes and is essential for stable epidermal adhesion. Biallelic loss-of-function variants cause junctional epidermolysis bullosa, while autoantibodies against the protein cause bullous pemphigoid.
1 disease-causing and 4 uncertain variants in COL17A1 are linked to Epithelial recurrent erosion dystrophy.
Known disease-causing variants in Epithelial recurrent erosion dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL17A1 R1303Q | 1303 | Triple-helical region | Disease-causing (★★) |
Same protein, different disease
- Amelogenesis imperfecta is also caused by COL17A1 variants; they fall mostly in different places as the Epithelial recurrent erosion dystrophy variants (4 disease-causing).
Diseases related to Epithelial recurrent erosion dystrophy
- Junctional epidermolysis bullosa, also linked to COL17A1
- Amelogenesis imperfecta, also linked to COL17A1
- Junctional epidermolysis bullosa, non-Herlitz type, also linked to COL17A1
- Epidermolysis bullosa, junctional 4, intermediate, also linked to COL17A1
Frequently asked questions
Which genes are linked to Epithelial recurrent erosion dystrophy?
In CATVariant, Epithelial recurrent erosion dystrophy is linked to 1 analyzed protein: COL17A1 (Collagen alpha-1(XVII) chain).
How many genetic variants are linked to Epithelial recurrent erosion dystrophy?
15 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epithelial recurrent erosion dystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center